ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.90834T>A (p.Ser30278Arg)

dbSNP: rs397517751
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040771 SCV000064462 uncertain significance not specified 2012-09-21 criteria provided, single submitter clinical testing The Ser27710Arg variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino a cid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the S er27710Arg variant may impact the protein, though this information is not predic tive enough to determine pathogenicity. Additional information is needed to ful ly assess the clinical significance of the Ser27710Arg variant.
Fulgent Genetics, Fulgent Genetics RCV000765546 SCV000896861 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2018-10-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798196 SCV002043053 uncertain significance Cardiomyopathy 2021-04-09 criteria provided, single submitter clinical testing

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